Article
A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis.
American journal of human genetics - 1 Mar 2009
Schrauwen Isabelle, Ealy Megan, Huentelman Matthew J, Thys Melissa, Homer Nils, Vanderstraeten Kathleen, Fransen Erik, Corneveaux Jason J, Craig David W, Claustres Mireille, Cremers Cor W R J, Dhooge Ingeborg, Van de Heyning Paul, Vincent Robert, Offeciers Erwin, Smith Richard J H, Van Camp Guy
Abstract excerpt
Otosclerosis is a common form of progressive hearing loss, characterized by abnormal bone remodeling in the otic capsule. The etiology of the disease is largely unknown, and both environmental and genetic factors have been implicated. To identify genetic factors involved in otosclerosis, we used a case-control discovery group to complete a genome-wide association (GWA) study with 555,000 single-nucleotide...
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